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Area family deals with child’s rare disorder

Sitting with the McWilliams family, it’s difficult to imagine that they might be struggling with anything.

Becky, 35, and Blair, 36, live with sons Jackson, 4, and Kieran, 15 months, in a quaint Lafayette Hill home bordered by a white picket fence, while their chow mix Bailey is able to roam freely in their spacious backyard.

From an outside perspective, you might say that the McWilliams have an ideal, picturesque family life, but digging deeper, you will learn that their lives have taken a difficult turn since the birth of Kieran on April 21, 2010.

Although he is all-smiles day and night the “happiest baby I’ve ever met,” according to his mother – Kieran, a normal-looking 15-month-old child, is dealing with a life-changing genetic disorder called Prader-Willi syndrome, or PWS.

Named after two of the Swiss doctors who first described it in 1956, PWS is a randomly occurring, non-inherited, genetic disorder characterized by a mutation of chromosome 15.

According to the Foundation for Prader-Willi Research, PWS affects approximately one out of every 12,000-15,000 births, regardless of sex, race or ethnicity, and is recognized as the most common genetic cause of childhood obesity.

Brother Jackson, 4, has been nothing but a help since baby Kieran, 15 months, was diagnosed with PWS, according to their mother.

Although many of its symptoms may occur differently from patient to patient, its defining symptoms include low muscle tone and a lack of sucking reflex during infancy, lethargy, delayed motor and intellectual progress and an inability to control food intake, which is presumably linked to a dysfunction of the brain’s hypothalamus, the portion that controls hunger and satiety cues among other things.

This last symptom, the inability to feel “full” is what is most often associated with PWS, even requiring pantries and refrigerators to be locked from patients in the most extreme cases.

While Becky and Blair’s pregnancy seemed by all standards normal, doctors noticed at 32 weeks that Kieran wasn’t progressing as well physically as they had hoped. At 35 weeks, doctors at Pennsylvania Hospital decided not to wait any longer for Kieran to be delivered and ordered that Becky have a C-section.

Mere hours after Kieran’s birth, doctors were sure something was wrong with him.

“It’s almost like your worst nightmare,” Becky said, speaking about the uncertainties she and Blair had about Kieran’s fate. “We were just hoping for the best case scenario.”

Though Kieran’s hypotonia, or the lack of muscle tone often labeled “floppy baby syndrome,” hinted to doctors that he might have PWS, they couldn’t be sure until they ran a battery of tests. After seeing a geneticist and undergoing a DNA methylation test designed specifically to discover PWS, Kieran was diagnosed as testing positive for the disorder.

“I was floored,” Blair said. “The diagnosis pretty much knocked the wind out of me because we had gone through an entire pregnancy without any idea that there could be a problem so serious.”

Becky and Blair were devastated by the diagnosis, but they felt they needed to be proactive in learning more about PWS before letting their emotions run away from them.

“We were shocked,” Becky said, “but we really felt we needed to get a grip and understand it.”

“I had never heard of Prader-Willi syndrome before he was born,” Blair said, “and I spent the next six months staying up late at night, reading as many medical journals as possible in the hopes of learning as much as I possibly could about his condition.”

Kieran spent six weeks in a neonatal intensive care unit until he was allowed to come home. Attached to a feeding tube for six months more, Kieran began a host of occupational, speech and physical therapy sessions as well as follow-up visits with doctors and specialists at both Jefferson University Hospital and the Children’s Hospital of Philadelphia that he continues today.

The 15-month-old even received his own personal nutritional specialist to deal with all of the current and future food issues that are involved with PWS – something that Becky can now joke about.

“I’ve wanted my own nutritionist all my life,” she said laughing, “and he’s had one since he was six weeks old.”

After gaining a crash-course understanding of PWS, Becky and Blair, following the plan set out by Kieran’s doctors, were able to take a very calm, optimistic stance to their child’s disorder.

“I think that we started to take a more day-by-day approach to things,” Blair said.

Although it took some time to adjust to Kieran’s medicinal regiment of thyroid medication and human growth hormone injections, which have been shown to aid PWS patients with growth, metabolism and evening out their fat/muscle ratio, Becky admits that other than time, Kieran’s disorder hasn’t negatively affected their family’s life.

Luckily, Becky, a native of New York City, and Blair, originally from West Mt. Airy, have been able to rely on a great support system of friends and family and son Jackson, who is always offering to help care for his brother. They’ve even been able to reach out locally to many PWS families in the Philadelphia area.

Kieran’s parents have now become so involved in becoming PWS experts and reaching out to the PWS community that they will be hosting a 2-K Walk-a-Thon Saturday, Sept. 10 to help raise money for Prader-Willi research.

The event, called One Small Step, will take place at Fort Washington State Park in Flourtown from 10:30 a.m. to 1:30 p.m.

As part of an international initiative of events, the McWilliams’ Walk-a-Thon is aiming to raise $30,000, all of which will go to fund a Prader-Willi research plan.

Along with the walk, the McWilliams are planning a raffle and silent auction featuring prizes from jewelry and various children’s items to an annual membership to the Please Touch Museum and gift cards to local businesses.

There will also be kid-friendly music and entertainment and an assortment of snacks and beverages for those attending.

As Kieran, who is scheduled to soon become a part of a long-term study of the benefits of human growth hormone on PWS patients, now sits upright on Becky’s lap, she said his progress is a miracle compared to the “ragdoll” he was when he was born.

When you look into her eyes as Kieran joyfully reaches for her hand, it’s not difficult to see a sense of confidence in moving forward.

“The more you learn about the complexity of the disorder, the easier it is to become scared of what might be lurking around the corner,” Blair said. “When will the insatiable hunger kick-in for Kieran? Will our son ever be able to live an independent life?

“We have every reason to believe that if we can do our part as parents though that Kieran will live a fulfilling life.”

“As long as we give Kieran everything we can for the best possible start to life,” Becky said, “we have the upmost optimism.

“We literally feel he has zero limitations.”

For more information and registration information on the One Small Step Walk-a-Thon, visit onesmallstep.fpwr.org/pa/philadelphia. For more information on Prader-Willi Syndrome, visit fpwr.org.